GeneBe

PLEKHG6

pleckstrin homology and RhoGEF domain containing G6, the group of Dbl family Rho GEFs|Pleckstrin homology domain containing

Basic information

Region (hg38): 12:6310436-6328506

Links

ENSG00000008323 ∙ NCBI:55200 ∙ OMIM:611743 ∙ HGNC:25562 ∙ Uniprot:Q3KR16 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the PLEKHG6 gene.

  • not_specified (166 variants)
  • PLEKHG6-related_disorder (3 variants)
  • not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PLEKHG6 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001384598.1. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
2
clinvar
 2
missense
155
clinvar
10
clinvar
 165
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
1
clinvar
 1
Total 0 0 156 12 0
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
PLEKHG6protein_codingprotein_codingENST00000396988 1518071
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
3.72e-190.2271256561911257480.000366
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.0006074624621.000.00002914975
Missense in Polyphen7194.2770.75311053
Synonymous-0.6802001881.060.00001091691
Loss of Function1.553546.40.7550.00000330410

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0003370.000336
Ashkenazi Jewish0.000.00
East Asian0.0003940.000326
Finnish0.000.00
European (Non-Finnish)0.0003150.000308
Middle Eastern0.0003940.000326
South Asian0.001430.00127
Other0.0003390.000326

dbNSFP

Source: dbNSFP

Function
FUNCTION: Guanine nucleotide exchange factor activating the small GTPase RHOA, which, in turn, induces myosin filament formation. Also activates RHOG. Does not activate RAC1, or to a much lower extent than RHOA and RHOG. Part of a functional unit, involving PLEKHG6, MYH10 and RHOA, at the cleavage furrow to advance furrow ingression during cytokinesis. In epithelial cells, required for the formation of microvilli and membrane ruffles on the apical pole. Along with EZR, required for normal macropinocytosis. {ECO:0000269|PubMed:16721066, ECO:0000269|PubMed:17881735}.;
Pathway
Regulation of RhoA activity (Consensus)

Recessive Scores

pRec
0.0857

Intolerance Scores

loftool
0.984
rvis_EVS
-0.79
rvis_percentile_EVS
12.63

Haploinsufficiency Scores

pHI
0.0691
hipred
N
hipred_score
0.372
ghis
0.468

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.296

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Plekhg6
Phenotype

Gene ontology

Biological process
regulation of Rho protein signal transduction;positive regulation of GTPase activity
Cellular component
spindle pole;cytoplasm;centrosome;microvillus;cell junction;cleavage furrow
Molecular function
Rho guanyl-nucleotide exchange factor activity;GTPase activator activity;protein binding